Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11976235
rs11976235
EPO
1 1.000 7 100722758 missense variant C/T snv 3.5E-03 3.7E-03 0.700 1.000 2 2016 2018
dbSNP: rs149431976
rs149431976
EPO
1 1.000 7 100722991 missense variant C/G snv 9.1E-04 6.1E-04 0.700 1.000 2 2016 2018
dbSNP: rs137953994
rs137953994
EPO
1 1.000 7 100722667 missense variant G/A;C snv 1.0E-03; 5.3E-05 0.700 0
dbSNP: rs1554393458
rs1554393458
EPO
1 1.000 7 100721563 frameshift variant C/- delins 0.700 0
dbSNP: rs1554393463
rs1554393463
EPO
1 1.000 7 100721576 frameshift variant G/- delins 0.700 0
dbSNP: rs62483572
rs62483572
EPO
1 1.000 7 100722010 missense variant G/A snv 2.4E-03 2.7E-03 0.700 0